Logotipo del repositorio
 

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Vista sencilla de ítem
dc.contributor.authorShimelis, Hermela
dc.contributor.authorMesman, Romy L. S.
dc.contributor.authorVon Nicolai, Catharina
dc.contributor.authorEhlen, Asa
dc.contributor.authorGuidugli, Lucia
dc.contributor.authorMartin, Charlotte
dc.contributor.authorCalleja, Fabienne M. G. R.
dc.contributor.authorMeeks, Huong
dc.contributor.authorHallberg, Emily
dc.contributor.authorHinton, Jamie
dc.contributor.authorLilyquist, Jenna
dc.contributor.authorHu, Chunling
dc.contributor.authorAalfs, Cora M.
dc.contributor.authorAittomaki, Kristiina
dc.contributor.authorAndrulis, Irene
dc.contributor.authorAnton-Culver, Hoda
dc.contributor.authorArndt, Volker
dc.contributor.authorBeckmann, Matthias W.
dc.contributor.authorBenitez, Javier
dc.contributor.authorBogdanova, Natalia V.
dc.contributor.authorBojesen, Stig E.
dc.contributor.authorBolla, Manjeet K.
dc.contributor.authorBorresen-Dale, Anne-Lise
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorBrennan, Paul
dc.contributor.authorBrenner, Hermann
dc.contributor.authorBroeks, Annegien
dc.contributor.authorBrouwers, Barbara
dc.contributor.authorBruning, Thomas
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorCheng, Ching-Yu
dc.contributor.authorChoi, Ji-Yeob
dc.contributor.authorCollee, J. Margriet
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S.
dc.contributor.authorCzene, Kamila
dc.contributor.authorDarabi, Hatef
dc.contributor.authorDennis, Joe
dc.contributor.authorDork, Thilo
dc.contributor.authorDos-Santos-Silva, Isabel
dc.contributor.authorDunning, Alison M.
dc.contributor.authorFasching, Peter A.
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorFlyger, Henrik
dc.contributor.authorGarcia-Closas, Montserrat
dc.contributor.authorGiles, Graham G.
dc.contributor.authorGlendon, Gord
dc.contributor.authorGuenel, Pascal
dc.contributor.authorHaiman, Christopher A.
dc.contributor.authorHall, Per
dc.contributor.authorHamann, Ute
dc.contributor.authorHartman, Mikael
dc.contributor.authorHogervorst, Frans B.
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorHopper, John L.
dc.contributor.authorIto, Hidemi
dc.contributor.authorJakubowska, Anna
dc.contributor.authorKang, Daehee
dc.contributor.authorKosma, Veli-Matti
dc.contributor.authorKristensen, Vessela
dc.contributor.authorLai, Kah-Nyin
dc.contributor.authorLambrechts, Diether
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorLi, Jingmei
dc.contributor.authorLindblom, Annika
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorLubinski, Jan
dc.contributor.authorMachackova, Eva
dc.contributor.authorMannermaa, Arto
dc.contributor.authorMargolin, Sara
dc.contributor.authorMarme, Frederik
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorMiao, Hui
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorMilne, Roger L.
dc.contributor.authorMuir, Kenneth
dc.contributor.authorNeuhausen, Susan L.
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorOlson, Janet E.
dc.contributor.authorOlswold, Curtis
dc.contributor.authorOosterwijk, Jan J. C.
dc.contributor.authorOsorio, Ana
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorPeto, Julian
dc.contributor.authorPharoah, Pauld D. P.
dc.contributor.authorPylkas, Katri
dc.contributor.authorRadice, Paolo
dc.contributor.authorRashid, Muhammad Usman
dc.contributor.authorRhenius, Valerie
dc.contributor.authorRudolph, Anja
dc.contributor.authorSangrajrang, Suleeporn
dc.contributor.authorSawyer, Elinor J.
dc.contributor.authorSchmidt, Marjanka K.
dc.contributor.authorSchoemaker, Minouk J.
dc.contributor.authorSeynaeve, Caroline
dc.contributor.authorShah, Mitul
dc.contributor.authorShen, Chen-Yang
dc.contributor.authorShrubsole, Martha
dc.contributor.authorShu, Xiao-Ou
dc.contributor.authorSlager, Susan
dc.contributor.authorSouthey, Melissa C.
dc.contributor.authorStram, Daniel O.
dc.contributor.authorSwerdlow, Anthony
dc.contributor.authorTeo, Soo H.
dc.contributor.authorTomlinson, Ian
dc.contributor.authorTorres, Diana
dc.contributor.authorTruong, Therese
dc.contributor.authorVan Asperen, Christi J.
dc.contributor.authorVan der Kolk, Lizet E.
dc.contributor.authorWang, Qin
dc.contributor.authorWinqvist, Robert
dc.contributor.authorWu, Anna H.
dc.contributor.authorYu, Jyh-Cherng
dc.contributor.authorZheng, Wei
dc.contributor.authorZheng, Ying
dc.contributor.authorLeary, Jennifer
dc.contributor.authorWalker, Logan
dc.contributor.authorForetova, Lenka
dc.contributor.authorFostira, Florentia
dc.contributor.authorClaes, Kathleen B. M.
dc.contributor.authorVaresco, Liliana
dc.contributor.authorMoghadasi, Setareh
dc.contributor.authorEaston, Douglas F.
dc.contributor.authorSpurdle, Amanda
dc.contributor.authorDevilee, Peter
dc.contributor.authorVrieling, Harry
dc.contributor.authorMonteiro, Alvaro N. A.
dc.contributor.authorGoldgar, David E.
dc.contributor.authorCarreira, Aura
dc.contributor.authorVreeswijk, Maaike P. G.
dc.contributor.authorCouch, Fergus J.
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.date.accessioned2020-03-17T14:42:51Z
dc.date.accessioned2020-04-15T13:34:19Z
dc.date.available2020-03-17T14:42:51Z
dc.date.available2020-04-15T13:34:19Z
dc.date.created2017-06
dc.description.abstractenglishBreast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. (C) 2017 AACR.spa
dc.description.paginas2789-2799spa
dc.description.quartilescopusQ1spa
dc.description.quartilewosQ1spa
dc.description.tipoarticuloEstudio clínicospa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.format.soportePapel / Electrónicospa
dc.identifierhttps://cancerres.aacrjournals.org/content/77/11/2789spa
dc.identifier.doihttps://doi.org/10.1158/0008-5472.CAN-16-2568spa
dc.identifier.issn0008-5472 / 1538-7445 (Electrónico)spa
dc.identifier.urihttp://hdl.handle.net/10554/47682
dc.languagespaspa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceCancer Research; Vol. 77 Núm. 1 (2017)spa
dc.titleBRCA2 hypomorphic missense variants confer moderate risks of breast cancerspa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

Archivos

Bloque original
Mostrando 1 - 1 de 1
Miniatura
Nombre:
2789.full.pdf
Tamaño:
934.19 KB
Formato:
Adobe Portable Document Format
Descripción:
Artículo
Descargar
Bloque de licencias
Mostrando 1 - 1 de 1
No hay miniatura disponible
Nombre:
license.txt
Tamaño:
2.54 KB
Formato:
Plain Text
Descripción:
Descargar

Colecciones

Artículos